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Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders.
Published in:
2017
By:
- Lunsing, Roelineke;
- Strating, Kim;
- Koning, Tom;
- Sijens, Paul;
- Lunsing, Roelineke J;
- de Koning, Tom J;
- Sijens, Paul E
Publication type:
journal article
Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review.
Published in:
Movement Disorders Clinical Practice, 2023, v. 10, n. 1, p. 17, doi. 10.1002/mdc3.13577
By:
- von Scheibler, Emma N. M. M.;
- van Eeghen, Agnies M.;
- de Koning, Tom J.;
- Kuijf, Mark L.;
- Zinkstok, Janneke R.;
- Müller, Annelieke R.;
- van Amelsvoort, Thérèse A. M. J.;
- Boot, Erik
Publication type:
Article
Serotonergic system in vivo with [<sup>11</sup>C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10067-5
By:
- Timmers, Elze R.;
- Peretti, Débora E.;
- Smit, Marenka;
- de Jong, Bauke M.;
- Dierckx, Rudi A. J. O.;
- Kuiper, Anouk;
- de Koning, Tom J.;
- Vállez García, David;
- Tijssen, Marina A. J.
Publication type:
Article
Development and Validation of Decision Rules Models to Stratify Coronary Artery Disease, Diabetes, and Hypertension Risk in Preventive Care: Cohort Study of Returning UK Biobank Participants.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 12, p. 1322, doi. 10.3390/jpm11121322
By:
- Castela Forte, José;
- Folkertsma, Pytrik;
- Gannamani, Rahul;
- Kumaraswamy, Sridhar;
- Mount, Sarah;
- de Koning, Tom J.;
- van Dam, Sipko;
- Wolffenbuttel, Bruce H. R.
Publication type:
Article
Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency.
Published in:
2000
By:
- de Koning, Tom J;
- Duran, Marinus;
- Dorland, Lambertus;
- Jakobs, Cornelis;
- Wevers, Ron A;
- Berger, Ruud;
- Poll-The, Bwee-Tien;
- de Koning, T J;
- Duran, M;
- Dorland, L;
- Jakobs, C;
- Wevers, R A;
- Berger, R;
- Poll-The, B T
Publication type:
Case Study
Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.
Published in:
Neonatology (16617800), 2016, v. 109, n. 4, p. 297, doi. 10.1159/000443874
By:
- van Rijt, Willemijn J.;
- Koolhaas, Geneviève D.;
- Bekhof, Jolita;
- Heiner Fokkema, M. Rebecca;
- de Koning, Tom J.;
- Visser, Gepke;
- Schielen, Peter C.J.I.;
- van Spronsen, Francjan J.;
- Derks, Terry G.J.
Publication type:
Article
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study.
Published in:
2017
By:
- van Egmond, Martje E.;
- Weijenberg, Amerins;
- van Rijn, Margreet E.;
- Elting, Jan Willem J.;
- Gelauff, Jeannette M.;
- Zutt, Rodi;
- Sival, Deborah A.;
- Lambrechts, Roald A.;
- Tijssen, Marina A. J.;
- Brouwer, Oebele F.;
- de Koning, Tom J.
Publication type:
journal article
Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 177, doi. 10.1186/s13023-014-0177-6
By:
- Eggink, Hendriekje;
- Kuiper, Anouk;
- Peall, Kathryn J;
- Contarino, Maria Fiorella;
- Bosch, Annet M;
- Post, Bart;
- Sival, Deborah A;
- Tijssen, Marina AJ;
- de Koning, Tom J
Publication type:
Article
Gut Microbiome Composition in Dystonia Patients.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2383, doi. 10.3390/ijms24032383
By:
- Timmers, Elze R.;
- Swarte, J. Casper;
- Gacesa, Ranko;
- Björk, Johannes R.;
- Weersma, Rinse K.;
- Tijssen, Marina A. J.;
- de Koning, Tom J.;
- Harmsen, Hermie J. M.;
- Niezen-Koning, Klary E.
Publication type:
Article
The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies?
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2197, doi. 10.3390/ijms23042197
By:
- Mposhi, Archibold;
- Liang, Lin;
- Mennega, Kevin P.;
- Yildiz, Dilemin;
- Kampert, Crista;
- Hof, Ingrid H.;
- Jellema, Pytrick G.;
- de Koning, Tom J.;
- Faber, Klaas Nico;
- Ruiters, Marcel H. J.;
- Niezen-Koning, Klary E.;
- Rots, Marianne G.
Publication type:
Article
Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old: a phenomenographic qualitative study.
Published in:
BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04548-x
By:
- Orfanos, Ioannis;
- Lindkvist, Rose-Marie;
- Eklund, Erik G. A.;
- Elfving, Kristina;
- Alfvén, Tobias;
- de Koning, Tom J.;
- Castor, Charlotte
Publication type:
Article
Ketogenic Diet in Refractory Childhood Epilepsy.
Published in:
Child Neurology Open, 2018, v. 5, p. 1, doi. 10.1177/2329048X18779497
By:
- Weijenberg, Amerins;
- van Rijn, Margreet;
- Callenbach, Petra M. C.;
- de Koning, Tom J.;
- Brouwer, Oebele F.
Publication type:
Article
Case Report: "Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy".
Published in:
Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.745734
By:
- van Verseveld, M.;
- Koens, L. H.;
- de Koning, Tom J.;
- Derikx, R. L. E.;
- van Waarde, J. A.
Publication type:
Article
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Published in:
Nature Genetics, 1999, v. 22, n. 2, p. 175, doi. 10.1038/9691
By:
- Houten, Sander M.;
- Kuis, Wietse;
- Duran, Marinus;
- de Koning, Tom J.;
- van Royen-Kerkhof, Annet;
- Romeijn, Gerrit J.;
- Frenkel, Joost;
- Dorland, Lambertus;
- de Barse, Martina M.J.;
- Huijbers, Wim A.R.;
- Rijkers, Ger T.;
- Waterham, Hans R.;
- Wanders, Ronald J.A.;
- Poll-The, Bwee Tien
Publication type:
Article
Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients.
Published in:
Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01384-7
By:
- Timmers, Elze R.;
- Plösch, Torsten;
- Smit, Marenka;
- Hof, Ingrid H.;
- Verkaik-Schakel, Rikst Nynke;
- Tijssen, Marina A. J.;
- de Koning, Tom J.;
- Niezen-Koning, Klary E.
Publication type:
Article
The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism: A Caco-2 Cell Model.
Published in:
PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054113
By:
- Albersen, Monique;
- Bosma, Marjolein;
- Knoers, Nine V. V. A. M.;
- de Ruiter, Berna H. B.;
- Diekman, Eugène F.;
- de Ruijter, Jessica;
- Visser, Wouter F.;
- de Koning, Tom J.;
- Verhoeven-Duif, Nanda M.
Publication type:
Article
Assessment of speech in early-onset ataxia: a pilot study.
Published in:
Developmental Medicine & Child Neurology, 2014, v. 56, n. 12, p. 1202, doi. 10.1111/dmcn.12517
By:
- Kuiper, Marieke J;
- Brandsma, Rick;
- Lawerman, Tjitske F;
- Lunsing, Roelineke J;
- Keegstra, Anne L;
- Burger, Huibert;
- De Koning, Tom J;
- Tijssen, Marina A J;
- Sival, Deborah A
Publication type:
Article
Assessment of speech in early-onset ataxia: a pilot study.
Published in:
Developmental Medicine & Child Neurology, 2014, v. 56, n. 6, p. 1, doi. 10.1111/dmcn.12517
By:
- KUIPER, MARIEKE J.;
- BRANDSMA, RICK;
- LAWERMAN, TJITSKE F.;
- LUNSING, ROELINEKE J.;
- KEEGSTRA, ANNE L.;
- BURGER, HUIBERT;
- DE KONING, TOM J.;
- TIJSSEN, MARINA A. J.;
- SIVAL, DEBORAH A.
Publication type:
Article
Identification of human D lactate dehydrogenase deficiency.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09458-6
By:
- Monroe, Glen R.;
- van Eerde, Albertien M.;
- Tessadori, Federico;
- Duran, Karen J.;
- Savelberg, Sanne M. C.;
- van Alfen, Johanna C.;
- Terhal, Paulien A.;
- van der Crabben, Saskia N.;
- Lichtenbelt, Klaske D.;
- Fuchs, Sabine A.;
- Gerrits, Johan;
- van Roosmalen, Markus J.;
- van Gassen, Koen L.;
- van Aalderen, Mirjam;
- Koot, Bart G.;
- Oostendorp, Marlies;
- Duran, Marinus;
- Visser, Gepke;
- de Koning, Tom J.;
- Calì, Francesco
Publication type:
Article
Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia.
Published in:
2018
By:
- Marinus Oterdoom, D. L.;
- van Egmond, Martje E.;
- Cassini Ascencao, Luisa;
- van Dijk, J. Marc C.;
- Saryyeva, Assel;
- Beudel, Martijn;
- Runge, Joachim;
- de Koning, Tom J.;
- Abdallat, Mahmoud;
- Eggink, Hendriekje;
- Tijssen, Marina A. J.;
- Krauss, Joachim K.
Publication type:
Case Study
D-Amino Acid Aberrations in Cerebrospinal Fluid and Plasma of Smokers.
Published in:
Neuropsychopharmacology, 2013, v. 38, n. 10, p. 2019, doi. 10.1038/npp.2013.103
By:
- Luykx, Jurjen J;
- Bakker, Steven C;
- van Boxmeer, Loes;
- Vinkers, Christiaan H;
- Smeenk, Hanne E;
- Visser, Wouter F;
- Verhoeven-Duif, Nanda M;
- Strengman, Eric;
- Buizer-Voskamp, Jacobine E;
- de Groene, Lizzy;
- van Dongen, Eric PA;
- Borgdorff, Paul;
- Bruins, Peter;
- de Koning, Tom J;
- Kahn, René S;
- Ophoff, Roel A
Publication type:
Article
A Common Variant in ERBB4 Regulates GABA Concentrations in Human Cerebrospinal Fluid.
Published in:
Neuropsychopharmacology, 2012, v. 37, n. 9, p. 2088, doi. 10.1038/npp.2012.57
By:
- Luykx, Jurjen J;
- Vinkers, Christiaan H;
- Bakker, Steven C;
- Visser, Wouter F;
- van Boxmeer, Loes;
- Strengman, Eric;
- van Eijk, Kristel R;
- Lens, Judith A;
- Borgdorff, Paul;
- Keijzers, Peter;
- Kappen, Teus H;
- van Dongen, Eric P A;
- Bruins, Peter;
- Verhoeven, Nanda M;
- de Koning, Tom J;
- Kahn, René S;
- Ophoff, Roel A
Publication type:
Article
Survival and Psychomotor Development With Early Betaine Treatment in Patients With Severe Methylenetetrahydrofolate Reductase Deficiency.
Published in:
JAMA Neurology, 2014, v. 71, n. 2, p. 188, doi. 10.1001/jamaneurol.2013.4915
By:
- Diekman, Eugene F.;
- de Koning, Tom J.;
- Verhoeven-Duif, Nanda M.;
- Rovers, Maroeska M.;
- van Hasselt, Peter M.
Publication type:
Article
Intracranial bleeding due to vitamin K deficiency: advantages of using a pediatric intensive care registry.
Published in:
Intensive Care Medicine, 2011, v. 37, n. 6, p. 1014, doi. 10.1007/s00134-011-2175-7
By:
- Visser, Désirée Y.;
- Jansen, Nicolaas J.;
- Ijland, Marloes M.;
- de Koning, Tom J.;
- van Hasselt, Peter M.
Publication type:
Article
Magnetic resonance imaging pattern recognition in hypomyelinating disorders.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 10, p. 2971, doi. 10.1093/brain/awq257
By:
- Steenweg, Marjan E.;
- Vanderver, Adeline;
- Blaser, Susan;
- Bizzi, Alberto;
- De Koning, Tom J.;
- Mancini, Grazia M. S.;
- Van Wieringen, Wessel N.;
- Barkhof, Frederik;
- Wolf, Nicole I.;
- Van der Knaap, Marjo S.
Publication type:
Article
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.
Published in:
Turkish Journal of Pediatrics, 2009, v. 51, n. 6, p. 587
By:
- Coşkun, Turgay;
- Aydın, Halil İbrahim;
- Kılıç, Mustafa;
- Dursun, Ali;
- Haliloğlu, Göknur;
- Topaloğlu, Haluk;
- Karlı-Oğuz, Kader;
- de Koning, Tom J.
Publication type:
Article
D‐serine in the developing human central nervous system.
Published in:
Annals of Neurology, 2006, v. 60, n. 4, p. 476
By:
- Sabine A. Fuchs;
- Lambertus Dorland;
- Monique G. De Sain‐Van Der Velden;
- Margriet Hendriks;
- Leo W. J. Klomp;
- Ruud Berger;
- Tom J. De Koning
Publication type:
Article
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 981, doi. 10.1002/jimd.12533
By:
- Koens, Lisette H.;
- Tuitert, Inge;
- Blokzijl, Hans;
- Engelen, Marc;
- Klouwer, Femke C. C.;
- Lange, Fiete;
- Leen, Wilhelmina G.;
- Lunsing, Roelineke J.;
- Koelman, Johannes H. T. M.;
- Verrips, Aad;
- de Koning, Tom J.;
- Tijssen, Marina A. J.
Publication type:
Article
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 451, doi. 10.1002/jimd.12054
By:
- Kuiper, Anouk;
- Grünewald, Stephanie;
- Murphy, Elaine;
- Coenen, Maraike A.;
- Eggink, Hendriekje;
- Zutt, Rodi;
- Rubio‐Gozalbo, Maria E.;
- Bosch, Annet M.;
- Williams, Monique;
- Derks, Terry G. J.;
- Lachmann, Robin H. L.;
- Brouwers, Martijn C. G. J.;
- Janssen, Mirian C. H.;
- Tijssen, Marina A.;
- de Koning, Tom J.
Publication type:
Article
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 929, doi. 10.1007/s10545-018-0167-2
By:
- Hoogeveen, Irene J.;
- Peeks, Fabian;
- de Boer, Foekje;
- Lubout, Charlotte M. A.;
- de Koning, Tom J.;
- te Boekhorst, Sebastiaan;
- Zandvoort, Robert‐Jan;
- Burghard, Rob;
- van Spronsen, Francjan J.;
- Derks, Terry G. J.
Publication type:
Article
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 929, doi. 10.1007/s10545-018-0167-2
By:
- Hoogeveen, Irene J.;
- Peeks, Fabian;
- de Boer, Foekje;
- Lubout, Charlotte M. A.;
- de Koning, Tom J.;
- te Boekhorst, Sebastiaan;
- Zandvoort, Robert-Jan;
- Burghard, Rob;
- van Spronsen, Francjan J.;
- Derks, Terry G. J.
Publication type:
Article
Fatal cerebral edema associated with serine deficiency in CSF.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 181, doi. 10.1007/s10545-010-9067-9
By:
- Keularts, Irene M. L. W.;
- Leroy, Piet L. J. M.;
- Rubio‐Gozalbo, Estela M.;
- Spaapen, Leo J. M.;
- Weber, Biene;
- Dorland, Bert;
- de Koning, Tom J.;
- Verhoeven‐Duif, Nanda M.
Publication type:
Article
Whole body composition analysis by the BodPod air‐displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 283, doi. 10.1007/s10545-010-9149-8
By:
- Albersen, Monique;
- Bonthuis, Marjolein;
- de Roos, Nicole M.;
- den van Hurk, Dorine A. M.;
- Carbasius Weber, Ems;
- Hendriks, Margriet M. W. B.;
- de Sain‐van der Velden, Monique G. M.;
- de Koning, Tom J.;
- Visser, Gepke
Publication type:
Article
Fatal cerebral edema associated with serine deficiency in CSF.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. S181, doi. 10.1007/s10545-010-9067-9
By:
- Keularts, Irene M. L. W.;
- Leroy, Piet L. J. M.;
- Rubio-Gozalbo, Estela M.;
- Spaapen, Leo J. M.;
- Weber, Biene;
- Dorland, Bert;
- de Koning, Tom J.;
- Verhoeven-Duif, Nanda M.
Publication type:
Article
Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. S283, doi. 10.1007/s10545-010-9149-8
By:
- Albersen, Monique;
- Bonthuis, Marjolein;
- de Roos, Nicole M.;
- van den Hurk, Dorine A. M.;
- Weber, Ems Carbasius;
- Hendriks, Margriet M. W. B.;
- de Sain-van der Velden, Monique G. M.;
- de Koning, Tom J.;
- Visser, Gepke
Publication type:
Article
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism.
Published in:
Movement Disorders, 2023, v. 38, n. 4, p. 646, doi. 10.1002/mds.29332
By:
- Koens, Lisette H.;
- Klamer, Marrit R.;
- Sival, Deborah A.;
- Balint, Bettina;
- Bhatia, Kailash P.;
- Contarino, Maria Fiorella;
- van Egmond, Martje E.;
- Erro, Roberto;
- Friedman, Jennifer;
- Fung, Victor S.C.;
- Ganos, Christos;
- Kurian, Manju A.;
- Lang, Anthony E.;
- McGovern, Eavan M.;
- Roze, Emmanuel;
- de Koning, Tom J.;
- Tijssen, Marina A.J.
Publication type:
Article
Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.
Published in:
2019
By:
- Veen, Sterre;
- Zutt, Rodi;
- Klein, Christine;
- Marras, Connie;
- Berkovic, Samuel F.;
- Caviness, John N.;
- Shibasaki, Hiroshi;
- Koning, Tom J.;
- Tijssen, Marina A.J.;
- van der Veen, Sterre;
- de Koning, Tom J
Publication type:
journal article
Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology.
Published in:
Diagnostics (2075-4418), 2020, v. 10, n. 12, p. 997, doi. 10.3390/diagnostics10120997
By:
- Sival, Deborah A.;
- Garofalo, Martinica;
- Brandsma, Rick;
- Bokkers, Tom A.;
- van den Berg, Marloes;
- de Koning, Tom J.;
- Tijssen, Marina A. J.;
- Verbeek, Dineke S.
Publication type:
Article
GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
Published in:
Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-016-1141-7
By:
- van der Velde, K. Joeri;
- de Boer, Eddy N.;
- van Diemen, Cleo C.;
- Sikkema-Raddatz, Birgit;
- Knopperts, Alain;
- Franke, Lude;
- Sijmons, Rolf H.;
- de Koning, Tom J.;
- Wijmenga, Cisca;
- Sinke, Richard J.;
- Swertz, Morris A.
Publication type:
Article
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 18, p. 3623, doi. 10.1093/hmg/ddq278
By:
- Lübbehusen, Jürgen;
- Thiel, Christian;
- Rind, Nina;
- Ungar, Daniel;
- Prinsen, Berthil H.C.M.T.;
- de Koning, Tom J.;
- van Hasselt, Peter M.;
- Körner, Christian
Publication type:
Article
Novel Genetic and Phenotypic Expansion in GOSR2 -Related Progressive Myoclonus Epilepsy.
Published in:
Genes, 2023, v. 14, n. 10, p. 1860, doi. 10.3390/genes14101860
By:
- Hentrich, Lea;
- Parnes, Mered;
- Lotze, Timothy Edward;
- Coorg, Rohini;
- de Koning, Tom J.;
- Nguyen, Kha M.;
- Yip, Calvin K.;
- Jungbluth, Heinz;
- Koy, Anne;
- Dafsari, Hormos Salimi
Publication type:
Article
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.
Published in:
1998
By:
- de Koning, Tom J.;
- Duran, Marinus;
- Dorland, Lambertus;
- Gooskens, Rob;
- van Schaftingen, Emile;
- Jaeken, Jaak;
- Blau, Nenad;
- Berger, Ruud;
- Poll-The, Bwee Tien;
- de Koning, T J;
- Duran, M;
- Dorland, L;
- Gooskens, R;
- Van Schaftingen, E;
- Jaeken, J;
- Blau, N;
- Berger, R;
- Poll-The, B T
Publication type:
journal article
Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.
Published in:
2019
By:
- Egmond, Martje E.;
- Contarino, Maria Fiorella;
- Lugtenberg, Coen H.A.;
- Peall, Kathryn J.;
- Brouwer, Oebele F.;
- Fung, Victor S.C.;
- Roze, Emmanuel;
- Stewart, Roy E.;
- Willemsen, Michel A.;
- Wolf, Nicole I.;
- Koning, Tom J.;
- Tijssen, Marina A.;
- van Egmond, Martje E;
- de Koning, Tom J
Publication type:
journal article
Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism.
Published in:
2018
By:
- Koens, Lisette H.;
- Tijssen, Marina A.J.;
- Lange, Fiete;
- Wolffenbuttel, Bruce H.R.;
- Rufa, Alessandra;
- Zee, David S.;
- Koning, Tom J.;
- de Koning, Tom J
Publication type:
journal article
Progressive myoclonus ataxia: Time for a new definition?
Published in:
2018
By:
- van der Veen, Sterre;
- Zutt, Rodi;
- Elting, Jan Willem J.;
- Becker, Charlotte E.;
- de Koning, Tom J.;
- Tijssen, Marina A. J.
Publication type:
journal article
Treatable inherited rare movement disorders.
Published in:
2018
By:
- Jinnah, H. A.;
- Albanese, Alberto;
- Bhatia, Kailash P.;
- Cardoso, Francisco;
- Da Prat, Gustavo;
- de Koning, Tom J.;
- Espay, Alberto J.;
- Fung, Victor;
- Garcia‐Ruiz, Pedro J.;
- Gershanik, Oscar;
- Jankovic, Joseph;
- Kaji, Ryuji;
- Kotschet, Katya;
- Marras, Connie;
- Miyasaki, Janis M.;
- Morgante, Francesca;
- Munchau, Alexander;
- Pal, Pramod Kumar;
- Rodriguez Oroz, Maria C.;
- Rodríguez‐Violante, Mayela
Publication type:
journal article
A post hoc study on gene panel analysis for the diagnosis of dystonia.
Published in:
2017
By:
- van Egmond, Martje E.;
- Lugtenberg, Coen H.A.;
- Brouwer, Oebele F.;
- Contarino, Maria Fiorella;
- Fung, Victor S.C.;
- Heiner ‐ Fokkema, M. Rebecca;
- van Hilten, Jacobus J.;
- van der Hout, Annemarie H.;
- Peall, Kathryn J.;
- Sinke, Richard J.;
- Roze, Emmanuel;
- Verschuuren ‐ Bemelmans, Corien C.;
- Willemsen, Michel A.;
- Wolf, Nicole I.;
- Tijssen, Marina A.;
- de Koning, Tom J.;
- Heiner-Fokkema, M Rebecca;
- Verschuuren-Bemelmans, Corien C
Publication type:
journal article
Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation.
Published in:
2017
By:
- Eggink, Hendriekje;
- van Egmond, Martje E.;
- Verschuuren‐Bemelmans, Corien C.;
- Schönherr, Marleen C.;
- de Koning, Tom J.;
- Oterdoom, D.L. Marinus;
- Dijk, J. Marc C.;
- Tijssen, Marina A.J.
Publication type:
journal article

Found: 48